# Investigation of AEDs in SCN8A-derived epilepsy

> **NIH NIH R21** · EMORY UNIVERSITY · 2020 · $429,000

## Abstract

Project Summary
SCN8A, which encodes the voltage-gated sodium channel Nav1.6, is broadly expressed
throughout the brain. The first SCN8A-associated epilepsy mutation was recently identified in
2012, and since then, an increasing number of de novo SCN8A mutations have been identified
in patients with severe, refractory, childhood epilepsy. De novo SCN8A mutations have also been
found in patients with autism, intellectual disability and developmental delay but with less severe
epilepsy or no seizures. To better understand the phenotypic spectrum associated with SCN8A
dysfunction, we generated and characterized a knock-in mouse line expressing the human
SCN8A R1620L mutation which was identified in a patient with autism. Scn8aRL/+ mutants exhibit
increased seizure susceptibility, spontaneous seizures, and behavioral deficits including social
and cognitive impairment. A major challenge in the treatment of patients with SCN8A-associated
disease is the broad range of clinical presentations. Furthermore, in many cases, behavioral
comorbidities are not the primary treatment focus, and often persist or worsen, even if seizure
control is obtained. Therefore, the goal of this proposal is to use the Scn8aR1620L/+ mutants to
thoroughly and systematically compare the ability of 5 different antiepileptic drugs to improve both
seizure and behavioral phenotypes.

## Key facts

- **NIH application ID:** 9875701
- **Project number:** 1R21NS114795-01
- **Recipient organization:** EMORY UNIVERSITY
- **Principal Investigator:** Jennifer C. Wong
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $429,000
- **Award type:** 1
- **Project period:** 2020-02-15 → 2023-01-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9875701

## Citation

> US National Institutes of Health, RePORTER application 9875701, Investigation of AEDs in SCN8A-derived epilepsy (1R21NS114795-01). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9875701. Licensed CC0.

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